1. Genes and Genomic Entities
  2. PIGK

PIGK

phosphatidylinositol glycan anchor biosynthesis class K
OMIM: 605087, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PIGK in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.185
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, OMIM:618879
Green PIGK in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PIGK-associated Neurodevelopmental Syndrome
    Green PIGK in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879
    Green PIGK in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879